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Constrictive pericarditis as first presentation of IgG4-related disease: pitfalls and pearls.
Mod Rheumatol Case Rep
December 2024
Department of Cardiology, Concord Hospital, The University of Sydney, Concord, NSW, Australia.
IgG-4 related disease (IgG4-RD) is an under recognised multisystem inflammatory disorder that has several typical manifestations. Cardiac manifestations of IgG4-RD are well documented however do not feature in the definition or diagnosis of IgG4-RD according to a recent consensus statement. The most well recognised cardiac manifestation of IgG4-RD, pericardial disease, is outlined in this case report as the initial presenting pathology.
View Article and Find Full Text PDFTypical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and café au lait spots: A case report.
Biomed Rep
February 2025
Department of Breast Surgery, Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uyghur Autonomous Region 830000, P.R. China.
Neurofibromatosis type 1 (NF1), which is also known as von Recklinghausen's disease, is a multisystem genetic disease that is principally associated with cutaneous, neurologic and orthopedic manifestations. The present case report described an unusual case with a giant cutaneous neoplasm on the right breast skin of a 36-year-old female who was admitted to the Department of Breast Surgery at the Affiliated Tumor Hospital of Xinjiang Medical University (Urumqi, China). Skin mass excision was performed and histopathology confirmed the diagnosis of thoracic plexiform neurofibroma as a primary presentation of NF1.
View Article and Find Full Text PDFSodium-glucose cotransporter 2 inhibitors reduce albuminuria in patients with Fabry disease: a real-world case series.
Intern Med J
December 2024
Department of Nephrology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Background: Fabry disease is a rare X-linked multisystem disease, with progressive proteinuric kidney disease contributing significantly to morbidity and mortality of these patients. Evidence shows that sodium-glucose cotransporter 2 inhibitors (SGLT2Is) can reduce proteinuria and slow progression to end-stage kidney disease in both diabetic and non-diabetic kidney disease.
Aim: Evaluate the effects of SGLT2I on kidney function and albuminuria in patients with Fabry disease.
Oculoplastic Operative Considerations for Kabuki Syndrome: A Case Report and Review of the Literature.
Ophthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, U.S.A.
Kabuki syndrome is a rare genetic disease with multisystemic effects including ocular manifestations. The authors report a patient with known Kabuki syndrome who presented with bilateral euryblepharon, bilateral ptosis, OD hypotropia, and blue sclera. A bilateral lateral tarsal strip procedure was performed followed by a left frontalis sling with a silicone implant and a right external levator advancement with success.
View Article and Find Full Text PDFBehçet's disease and factor V Leiden: A thrombogenic synergy causing budd-chiari syndrome.
Radiol Case Rep
February 2025
Department of Internal Medicine, An Najah National University Hospital, Nablus, Palestine.
Behçet's Disease (BD) is a multisystem inflammatory disorder that can lead to severe vascular complications, including Budd-Chiari Syndrome (BCS), a rare but life-threatening condition characterized by hepatic vein obstruction. The co-occurrence of BD and inherited thrombophilia, such as Factor V Leiden mutation, significantly increases the risk of thrombosis, complicating the clinical management of affected individuals. In this case, a 16-year-old female initially presented with nonspecific symptoms of generalized fatigue and bone pain, which later progressed to abdominal distension and significant hepatosplenomegaly.
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